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When subsequent pathology tests were done on blood samples at the Women’s and Children’s Hospital in Adelaide, a metabolic explanation for Lauren’s myelin problem proved negative. We were left with an undiagnosed condition with no prognosis. The term Leukodystrophy was not mentioned until we had a review consultation with the Geneticist a month later. We were told that Lauren’s problem could have a genetic basis to it or it could be a one off mutation. We were none the wiser.Lauren had a follow up brain MRI scan at 18 months of age. This showed no change in the myelin from the first scan. A peripheral EMG nerve conduction study done around the same time showed nerve impulse transmission responses consistent with the presence of peripheral nerve myelination. A MRI scan of the spine at 2 years and 5 months showed myelin present in the spinal cord. So it appeared that Lauren only lacked myelin in the brain.
The initial consultation with our new Paediatrician, in July ’96, resulted in Lauren being admitted to Monash Medical Centre the next day for a nasogastric tube to be inserted. Such was her concern for Lauren’s poor growth and weight. The tube feeding was to supplement Lauren’s bottle feeds and boost her calorie and fluid intake. This proved to be a disaster. We suspected that Lauren could only tolerate a certain volume of formula each day. The additional volume provided by the nasogastric feeding was upsetting to Lauren and the tube caused irritation resulting in bleeding episodes and the vomiting of blood. We persevered with this feeding but eventually removed the tube. Lauren continued to be bottled fed a soy formula fortified with polyjoule receiving around 400mls per day which appeared to be all she could tolerate comfortably. Around this time Lauren had experienced urinary tract infections. Investigations showed that Lauren was retaining residual urine in her bladder creating an environment for bacterial growth. This problem has worsened over time to the point where we now catheterize to empty her bladder. Her ability to urinate on her own is now questionable. Unfortunatley catheterization had increased the frequency of UTI’s to the point where she has infections almost fortnightly.
We celebrated Lauren’s first birthday with mixed feelings. For the first year, we were the only ones who could nurse Lauren. She became very upset if anyone else picked her up or nursed her. Lauren can’t sit, roll, crawl, talk, she had some head control but this has deteriorated. Her muscle tone is extremely poor and she is generally floppy. Lauren does not like to be on the floor and she gets very distressed if she is left alone. A lot of the time is spent with her in our arms. She did not respond well to physiotherapy and these sessions were very distressful. When Lauren is very upset and stressed out she gets very hot and perspires excessively. Her temperature regulation is by no means normal. As a baby, she would perspire even while breast-feeding. She is clothed quite lightly even in winter, and at night she is covered only with a sheet and light blanket.
A stiffening action or muscle spasms often accompanied the irritability Lauren has experienced. At times these spasms are very distressing to Lauren and have occurred up to forty times an hour. EEG studies so far have shown no epileptic brain patterns, but as yet we have no satisfactory explanations for these spasms. We know they are distressing to Lauren so we are prepared to try any medications to reduce their intensity and frequency, provided the side effects are not too serious. The drugs prescribed so far have been used on a trial and error basis and unfortunately have produced few positive results. Her poor response to medication is one reason why we are keen to obtain as much information from other families, case studies and doctors who are more in the know about conditions such as PMD and Leukodystrophies.
An orange, crystalline discharge, which often appeared on Lauren’s nappies, was eventually analysed after a lot of questioning on our behalf. This substance proved to be calcium oxalate crystals, which form due to a lack of fluid in the body. Fortunately an ultrasound showed no kidney stones but the lack of fluid had the potential to form them in the future. Because Lauren was reluctant to take in any extra fluid orally, we made the decision to have a gastrostomy tube inserted. This occurred in April of 1997. Her daily fluid intake increased from 400 ml. to 700 ml. Her weight increased and so did her irritability, the crystals disappeared.